✦ LIBER ✦

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

✍ Scribed by Ferreira, Carlos; Poretti, Andrea; Cohen, Julie; Hamosh, Ada; Naidu, Sakkubai

Book ID: 121750502
Publisher: John Wiley and Sons
Year: 2014
Tongue: English
Weight: 246 KB
Volume: 164
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.36526

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

O41 – 1941 Mutation spectrum and clinica

O41 – 1941 Mutation spectrum and clinical characteristics in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

✍ Hamilton, EM; Vanderver, A; Siriwardena, K; Pinelli, L; Schiffmann, R; Blaser, S 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 70 KB

A De Novo Mutation in the β-Tubulin Gene

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

✍ Simons, Cas; Wolf, Nicole I.; McNeil, Nathan; Caldovic, Ljubica; Devaney, Joseph 📂 Article 📅 2013 🏛 American Society of Human Genetics 🌐 English ⚖ 572 KB

Expansion of the spectrum of TUBB4A-rela

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in theTUBB4Agene

✍ Blumkin, Lubov; Halevy, Ayelet; Ben-Ami-Raichman, Dominique; Dahari, Dvir; Haviv 📂 Article 📅 2014 🏛 Springer 🌐 English ⚖ 347 KB

Erratum to: Expansion of the spectrum of

Erratum to: Expansion of the spectrum of TUBB4A-related disorders: A new phenotype associated with a novel mutation in theTUBB4Agene

✍ Blumkin, Lubov; Halevy, Ayelet; Ben-Ami-Raichman, Dominique; Dahari, Dvir; Haviv 📂 Article 📅 2014 🏛 Springer 🌐 English ⚖ 51 KB

Expansion of the phenotypic spectrum of

Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation

✍ T Freilinger; M Bohe; B Wegener; B Müller-Myhsok; M Dichgans; H Knoblauch 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB

Nonsyndromic hearing loss DFNA10 and a n

Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: Evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain

✍ Tomoko Makishima; Anne C. Madeo; Carmen C. Brewer; Christopher K. Zalewski; John 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 317 KB 👁 2 views